Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease GENOMICS_ENGLAND Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. 29054114 2018
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 GeneticVariation disease BEFREE PLDN mutations in the pallid mouse and Hermansky-Pudlak syndrome-9 are associated with platelet DG deficiency. 28075530 2017
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 CausalMutation disease CLINVAR Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. 26575419 2016
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease MGD Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models. 25477496 2015
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease GENOMICS_ENGLAND Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. 22461475 2012
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 CausalMutation disease CLINVAR Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. 22461475 2012
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 GermlineCausalMutation disease ORPHANET A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. 21665000 2011
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease GENOMICS_ENGLAND A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. 21665000 2011
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 CausalMutation disease CLINVAR A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. 21665000 2011
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease GENOMICS_ENGLAND A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. 21665000 2011
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease MGD Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. 18715234 2008
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease MGD Gravity receptor function in mice with graded otoconial deficiencies. 15109702 2004
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease MGD Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. 12847290 2003
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease MGD Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. 12445206 2002
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease MGD Pulmonary pathologies in pallid mice result from nonhematopoietic defects. 12009785 2002
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease MGD Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. 10193444 1999
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease MGD The pallid mouse. A model of genetic alpha 1-antitrypsin deficiency. 8441253 1993
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease MGD Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. 6696991 1984
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease MGD Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity. 7089489 1982
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease MGD Lysosomal dysfunctions associated with mutations at mouse pigment genes. 115747 1979
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		0.810 Biomarker disease MGD Prevention of congenital otolith defect in pallid mutant mice by manganese supplementation. 5559839 1971
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.610 GeneticVariation disease BEFREE A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. 21665000 2011
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.610 Biomarker disease CTD_human
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.610 GeneticVariation disease CLINVAR